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Updated: Mar 10, 2026

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基因检测在诊断婴儿胆固醇性疾病中的重要性

Mahnoor Khan1, Muhammad Umair Shehzad1, Umaima M Khattak1

  • 1Pediatric Gastroenterology and Hepatology, Pakistan Kidney and Liver Institute and Research Center, Lahore, PAK.

Cureus
|March 9, 2026
PubMed
概括

先天性胆酸合成缺陷1型 (CBASD1) 是一种罕见的代谢障碍. 通过基因检测和胆酸分析进行早期诊断对于管理肝功能衰竭和考虑肝移植至关重要.

关键词:
胆固醇性肝病是一种肝病.生产性胆酸合成障碍 生产性胆酸合成障碍诊断性遗传检测 诊断性遗传检测是一种活体捐赠者的肝脏移植手术儿科肝脏疾病 儿科肝脏疾病

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